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rs147408540

From SNPedia

Orientationplus
Stabilizedplus
Make rs147408540(C;C)
Make rs147408540(C;T)
Make rs147408540(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position41619350
GeneLIMCH1
is asnp
is mentioned by
dbSNPrs147408540
dbSNP (old)rs147408540
ClinGenrs147408540
ebirs147408540
HLIrs147408540
Exacrs147408540
Gnomadrs147408540
Varsomers147408540
Maprs147408540
PheGenIrs147408540
Biobankrs147408540
1000 genomesrs147408540
hgdprs147408540
ensemblrs147408540
gopubmedrs147408540
geneviewrs147408540
scholarrs147408540
googlers147408540
pharmgkbrs147408540
gwascentralrs147408540
openSNPrs147408540
23andMers147408540
23andMe allrs147408540
SNP Nexus

SNPshotrs147408540
SNPdbers147408540
MSV3drs147408540
GWAS Ctlgrs147408540
Max Magnitude
*** Could the contributor who created this page indicate (here or on the talk/discussion page) what evidence they feel associates this SNP, rs147408540, to the Ala282Val variant in the IVD gene? SNPedia already contains another SNP - rs28940889 - which is reported to be the IVD Ala282Val SNP, and, this newly entered SNP, rs147408540, maps to chromosome 4 according to dbSNP, instead of to ch 15, which is (correctly mentioned below) as located on ch 15.


This SNP is associated with the IVD gene (isovaleryl-CoA dehydrogenase) missense substitution mutation variant named p.A311V (variation p.Ala282Val). The p.Ala282Val variant is associated with Isovaleric acidemia. The IVD gene has the cytogenetic location of 15q14-q15; the molecular location is on chromosome 15 (the long (q) arm between positions 14 and 15), base pairs 40697685 to 40713511.

See also[edit]